Incidental Mutation 'IGL02961:Polr3a'
| ID |
365345 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polr3a
|
| Ensembl Gene |
ENSMUSG00000025280 |
| Gene Name |
polymerase (RNA) III (DNA directed) polypeptide A |
| Synonyms |
RPC155, 9330175N20Rik, RPC1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02961
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
24498764-24537126 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 24517108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 714
(Y714*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026322]
[ENSMUST00000223718]
|
| AlphaFold |
B2RXC6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026322
AA Change: Y714*
|
| SMART Domains |
Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: Y714*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RPOLA_N
|
122 |
218 |
5e-43 |
BLAST |
|
RPOLA_N
|
248 |
553 |
1.09e-176 |
SMART |
|
Pfam:RNA_pol_Rpb1_4
|
728 |
834 |
4e-35 |
PFAM |
|
Pfam:RNA_pol_Rpb1_5
|
841 |
1318 |
1.2e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225526
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,671,731 (GRCm39) |
V2288A |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 110,437,318 (GRCm39) |
N76K |
probably damaging |
Het |
| AI182371 |
A |
T |
2: 34,976,124 (GRCm39) |
V258E |
possibly damaging |
Het |
| Alg1 |
T |
A |
16: 5,052,861 (GRCm39) |
N80K |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,741,793 (GRCm39) |
M963V |
possibly damaging |
Het |
| Avil |
C |
A |
10: 126,844,175 (GRCm39) |
Q245K |
probably benign |
Het |
| Caml |
A |
G |
13: 55,779,695 (GRCm39) |
N256S |
probably benign |
Het |
| Ccdc102a |
A |
C |
8: 95,629,978 (GRCm39) |
I521S |
possibly damaging |
Het |
| Ccm2l |
A |
G |
2: 152,920,521 (GRCm39) |
T393A |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,341,837 (GRCm39) |
V91A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,751,542 (GRCm39) |
D13G |
probably damaging |
Het |
| Chsy1 |
T |
A |
7: 65,821,530 (GRCm39) |
D588E |
probably benign |
Het |
| Cilp |
T |
A |
9: 65,185,891 (GRCm39) |
V662E |
possibly damaging |
Het |
| Cog8 |
A |
G |
8: 107,782,885 (GRCm39) |
|
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,502,823 (GRCm39) |
V134A |
probably benign |
Het |
| Ctcfl |
T |
A |
2: 172,943,712 (GRCm39) |
H546L |
possibly damaging |
Het |
| Dclre1c |
A |
G |
2: 3,438,070 (GRCm39) |
D136G |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,409,240 (GRCm39) |
E379D |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,294,408 (GRCm39) |
Y808H |
possibly damaging |
Het |
| Gm7247 |
T |
A |
14: 51,602,812 (GRCm39) |
N49K |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,308,785 (GRCm39) |
I84V |
probably benign |
Het |
| Ipo7 |
C |
T |
7: 109,646,223 (GRCm39) |
P541S |
probably benign |
Het |
| Kcnc3 |
T |
C |
7: 44,240,916 (GRCm39) |
S203P |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,122,402 (GRCm39) |
D1732G |
probably benign |
Het |
| Or10q3 |
T |
A |
19: 11,847,695 (GRCm39) |
N295I |
probably damaging |
Het |
| Or52d1 |
C |
A |
7: 103,756,357 (GRCm39) |
Y290* |
probably null |
Het |
| Or5p68 |
T |
C |
7: 107,945,334 (GRCm39) |
I285V |
probably benign |
Het |
| Or5w22 |
A |
G |
2: 87,363,028 (GRCm39) |
Y217C |
probably damaging |
Het |
| Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,405,426 (GRCm39) |
L426* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,797,089 (GRCm39) |
D8E |
possibly damaging |
Het |
| Pramel16 |
T |
C |
4: 143,675,717 (GRCm39) |
T370A |
probably damaging |
Het |
| Prb1c |
A |
T |
6: 132,338,371 (GRCm39) |
F282L |
unknown |
Het |
| Rasgrf1 |
T |
C |
9: 89,863,702 (GRCm39) |
V556A |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,703,941 (GRCm39) |
Y1996H |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,071,697 (GRCm39) |
L1248P |
probably damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,416,332 (GRCm39) |
L53P |
probably damaging |
Het |
| Slc22a27 |
T |
C |
19: 7,903,886 (GRCm39) |
R84G |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,097,392 (GRCm39) |
L1302P |
probably damaging |
Het |
| Srm |
T |
C |
4: 148,678,586 (GRCm39) |
V271A |
possibly damaging |
Het |
| Sycp2 |
A |
G |
2: 178,022,655 (GRCm39) |
I492T |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,256,301 (GRCm39) |
T472A |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,013,484 (GRCm39) |
D245G |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,967,075 (GRCm39) |
I274L |
probably benign |
Het |
| Vmn1r21 |
T |
C |
6: 57,820,974 (GRCm39) |
M157V |
probably benign |
Het |
| Wdr90 |
C |
A |
17: 26,067,649 (GRCm39) |
E1420* |
probably null |
Het |
| Zfp518a |
A |
T |
19: 40,903,462 (GRCm39) |
R1130S |
probably benign |
Het |
|
| Other mutations in Polr3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Polr3a
|
APN |
14 |
24,525,931 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL00974:Polr3a
|
APN |
14 |
24,529,492 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01348:Polr3a
|
APN |
14 |
24,511,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01464:Polr3a
|
APN |
14 |
24,520,749 (GRCm39) |
splice site |
probably benign |
|
|
IGL01785:Polr3a
|
APN |
14 |
24,534,188 (GRCm39) |
nonsense |
probably null |
|
|
IGL01786:Polr3a
|
APN |
14 |
24,534,188 (GRCm39) |
nonsense |
probably null |
|
|
IGL01936:Polr3a
|
APN |
14 |
24,529,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02095:Polr3a
|
APN |
14 |
24,504,678 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02454:Polr3a
|
APN |
14 |
24,525,891 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02702:Polr3a
|
APN |
14 |
24,520,945 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03069:Polr3a
|
APN |
14 |
24,511,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0001:Polr3a
|
UTSW |
14 |
24,502,257 (GRCm39) |
splice site |
probably benign |
|
|
R0048:Polr3a
|
UTSW |
14 |
24,519,323 (GRCm39) |
splice site |
probably benign |
|
|
R0157:Polr3a
|
UTSW |
14 |
24,529,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0445:Polr3a
|
UTSW |
14 |
24,504,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0449:Polr3a
|
UTSW |
14 |
24,534,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0597:Polr3a
|
UTSW |
14 |
24,534,202 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0604:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0644:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0703:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0754:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0767:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0816:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0817:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0819:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0840:Polr3a
|
UTSW |
14 |
24,502,268 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1481:Polr3a
|
UTSW |
14 |
24,502,616 (GRCm39) |
missense |
probably null |
0.98 |
|
R1644:Polr3a
|
UTSW |
14 |
24,520,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1699:Polr3a
|
UTSW |
14 |
24,534,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1704:Polr3a
|
UTSW |
14 |
24,534,188 (GRCm39) |
nonsense |
probably null |
|
|
R2363:Polr3a
|
UTSW |
14 |
24,525,960 (GRCm39) |
splice site |
probably null |
|
|
R3419:Polr3a
|
UTSW |
14 |
24,517,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Polr3a
|
UTSW |
14 |
24,526,169 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4296:Polr3a
|
UTSW |
14 |
24,503,264 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4611:Polr3a
|
UTSW |
14 |
24,502,576 (GRCm39) |
splice site |
probably null |
|
|
R4690:Polr3a
|
UTSW |
14 |
24,514,349 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4934:Polr3a
|
UTSW |
14 |
24,502,692 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4947:Polr3a
|
UTSW |
14 |
24,532,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5232:Polr3a
|
UTSW |
14 |
24,503,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5263:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5264:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5265:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5282:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5319:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5321:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5323:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5387:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5388:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5401:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5402:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5443:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5444:Polr3a
|
UTSW |
14 |
24,505,009 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5725:Polr3a
|
UTSW |
14 |
24,515,455 (GRCm39) |
splice site |
probably null |
|
|
R5841:Polr3a
|
UTSW |
14 |
24,500,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6408:Polr3a
|
UTSW |
14 |
24,536,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6704:Polr3a
|
UTSW |
14 |
24,511,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7136:Polr3a
|
UTSW |
14 |
24,511,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7307:Polr3a
|
UTSW |
14 |
24,510,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7368:Polr3a
|
UTSW |
14 |
24,517,144 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7800:Polr3a
|
UTSW |
14 |
24,534,455 (GRCm39) |
missense |
probably null |
0.83 |
|
R8753:Polr3a
|
UTSW |
14 |
24,513,702 (GRCm39) |
nonsense |
probably null |
|
|
R8785:Polr3a
|
UTSW |
14 |
24,502,383 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8848:Polr3a
|
UTSW |
14 |
24,500,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9025:Polr3a
|
UTSW |
14 |
24,519,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Polr3a
|
UTSW |
14 |
24,519,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Polr3a
|
UTSW |
14 |
24,520,899 (GRCm39) |
missense |
probably benign |
|
|
R9309:Polr3a
|
UTSW |
14 |
24,510,067 (GRCm39) |
missense |
probably benign |
|
|
R9363:Polr3a
|
UTSW |
14 |
24,500,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Polr3a
|
UTSW |
14 |
24,503,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9585:Polr3a
|
UTSW |
14 |
24,502,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Polr3a
|
UTSW |
14 |
24,529,792 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-12-18 |
Incidental Mutation